Figure S1. Comparison of proband versus trio exome workflows. Figure S2. Fetal sample types received and culturing time prior to prenatal exome sequencing. Figure S3. Referring practices. Table S1. Quality metrics of exome sequencing data of the fetal and parental samples. Table S2. Excluded samples without a final report. Table S3. Incidental findings reported for prenatal exome tests. Table S4. Reported fetal phenotypes. Table S5. Pairwise statistical analysis of diagnostic rate based on number of affected organ systems, corrected for multiple comparisons. Table S6. Regions of absence of heterozygosity (AOH) in cases with homozygous variants underlying the molecular diagnosis. Table S7. Pregnancy outcomes for locally referred cases. (PDF ...
Table S4. (A) The number of patients with isolated or combined infections, and (B) the number of pat...
Figures S1, S2, S3, and S4. Computational de novo variant detection from WES data, interactome analy...
Table S1. Differentially acetylated regions in FGR compared to controls. Table S2. Genes annotated t...
Table S1. Characteristics of four embryos after in vitro fertilization. The four embryos were scored...
Table S1. Information on the artificial single-cell-like DNA samples. Table S2. Characteristics of t...
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective a...
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective a...
Table S1. PCR primer for selected SNPs. Table S2. Confirmation of SNP calling by PCR/Sequencing. Tab...
Figure S1. Flow diagram of the systematic review of publications on diagnostic exome sequencing. Sup...
Table S1. Dataset - Not tested. Table S2. Dataset - PGS1 (exclusion). Table S3. Dataset - PGS2 (rank...
Additional file 1: Fig. S1. Workflow of the study. Fig. S2. Pairwise comparison of disease groups vs...
Systematic approach to study exome capture variability in exome-sequencing (A) Three-generation pedi...
Figure S1. Categorization of the clinical phenotypes of the patients in the studied dataset (n = 212...
Table S1. Clinical and biological data of the patients included in the study. Table S2. Tagmented DN...
Table S1. Human subjects studied. AA indicates African American, SVD is spontaneous vaginal delivery...
Table S4. (A) The number of patients with isolated or combined infections, and (B) the number of pat...
Figures S1, S2, S3, and S4. Computational de novo variant detection from WES data, interactome analy...
Table S1. Differentially acetylated regions in FGR compared to controls. Table S2. Genes annotated t...
Table S1. Characteristics of four embryos after in vitro fertilization. The four embryos were scored...
Table S1. Information on the artificial single-cell-like DNA samples. Table S2. Characteristics of t...
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective a...
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective a...
Table S1. PCR primer for selected SNPs. Table S2. Confirmation of SNP calling by PCR/Sequencing. Tab...
Figure S1. Flow diagram of the systematic review of publications on diagnostic exome sequencing. Sup...
Table S1. Dataset - Not tested. Table S2. Dataset - PGS1 (exclusion). Table S3. Dataset - PGS2 (rank...
Additional file 1: Fig. S1. Workflow of the study. Fig. S2. Pairwise comparison of disease groups vs...
Systematic approach to study exome capture variability in exome-sequencing (A) Three-generation pedi...
Figure S1. Categorization of the clinical phenotypes of the patients in the studied dataset (n = 212...
Table S1. Clinical and biological data of the patients included in the study. Table S2. Tagmented DN...
Table S1. Human subjects studied. AA indicates African American, SVD is spontaneous vaginal delivery...
Table S4. (A) The number of patients with isolated or combined infections, and (B) the number of pat...
Figures S1, S2, S3, and S4. Computational de novo variant detection from WES data, interactome analy...
Table S1. Differentially acetylated regions in FGR compared to controls. Table S2. Genes annotated t...